About Enhancer
| Enhancer ID: | E_04639 |
| Species: | Homo sapiens |
| Position : | chr7:155845627-155847652   |
| Year: | 2016 |
| Title: | The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | preaxial polydactyly-hypertrichosis |
| PMID: | 25782671 |
| Tissue: | limb |
| Tissue Ontology ID: | UBERON:0002101 |
| Cell Source: | Caco-2 |
| CVCL ID: | CVCL_0025 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Silencer activity assay; Disease-associated structural-variant assay |
| High Throughput Method: | SNP-array / array-CGH for deletion discovery |
| Low Throughput Method: | Long-range PCR and sequencing; luciferase reporter assay; deletion-fragment repression assay |
About Target Gene
| Target gene : | SHH |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04659 | chr7:155845627-155847652 | NA | NA | NA |
Expression of Target Genes for the Enhancer